December 24, 2008

Expansion of E-V13 and I-M423 from the Balkans

The most interesting aspect of this paper is that it supports a European rather than Middle Eastern origin of E-V13 and I-M243 based on an analysis of relative Y-STR variance. However, the age estimates presented in this paper are based on the infamous "evolutionary mutation rate", and are thus suspect. What appears as "Mesolithic" using the wrong mutation rate is actually Bronze Age, although with heftyconfidenceintervals.

Furthermore, caution should be used when correlating TMRCA with archaeological events. As I have noted before, the founder of a haplogroup is not the same as the Most Recent Common Ancestor (MRCA) of the present-day population from that haplogroup. This study seems to argue against the Middle Eastern origin of E-V13 suggested by Cruciani et al..

When exactly E-V13 came to the Balkans remains to be seen, but its expansion is properly placed in a Bronze Age rather than Mesolithic time frame. Interestingly, the paper has turned up some additional evidence:

Only four E-M78*, which do not belong to any already described sub-clade, have been observed in the southern Balkans. Two of them (from Greece) turned out to be characterized by the mutation M521 and therefore represent a new M78 lineage.

...

The presence of E-M78* Y chromosomes in the Balkans (two Albanians), previously described virtually only in northeast Africa, upper Nile, gives rise to the question of what the original source of the E-M78 may have been.

This is suggestive that E-V13 expanded from the Balkans out of a pre-existing E-M78 ancestor, almost completely swamping that E-M78 population. When exactly E-M78 arrived in the Balkans, it is difficult to say, since Y-STR variance takes us only as far back as the MRCA who lived in the Bronze Age.

In any case, this paper adds important new data on Balkan Y-chromosomes, although it is unfortunately marred by facile Y-chromosome/archaeological correlations, and the use of the inappropriate evolutionary mutation rate.

At present, I see no reason to change my theory on the expansion of E-V13. The finding that E-V13 is less diverse in Anatolia and the Middle East further reinforces the idea of the Balkan origin of that expansion, while an estimated age in the 2nd millennium BC is consistent with the birth of the Greek world.

The authors write:

Interestingly, J-DYS445-6 and J-M92 (a sub-lineage of M67), both have expansion times between 7000 and 8000 years ago

Converted into non-"evolutionary" ages, these are again consistent with the expansion of the Greek world. J-M92 was correctly associated with the expansion of the Greek world by Di Giacomo et al. (2004) "Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe", who did not fall into the evolutionary mutation rate trap.

Also of interest is the discovery of an extremely rare R1a*(xR1a1) in a single Macedonian Greek. Another instance of R1a*(xR1a1) was previously discovered in a Cretan Greek. R1a1 occurred in 16.3% of Greeks from Athens vs. 10.5% of Greeks from Macedonia, the opposite of what was observed by Semino et al. in 2000. R1a1 does not seem to have any clear geographical structure within Greece, which would be expected if it was of more recent introduction.

UPDATE: Having labeled E-V13 Mesolithic, the authors label haplogroups G and J2 as Neolithic. A most interesting observation (Table 1) is that haplogroup J2a-M410* and J2b-M12* have the maximum and second maximum Y-STR variance in the region, being much more diverse than other haplogroups supposedly representing pre-agricultural Europeans.

At least, such a finding should give pause to those who arrive at facile conclusions about ages of human migrations on the basis of Y-STR variance.

European Journal of Human Genetics doi:10.1038/ejhg.2008.249

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe

Vincenza Battaglia et al.

Abstract

The debate concerning the mechanisms underlying the prehistoric spread of farming to Southeast Europe is framed around the opposing roles of population movement and cultural diffusion. To investigate the possible involvement of local people during the transition of agriculture in the Balkans, we analysed patterns of Y-chromosome diversity in 1206 subjects from 17 population samples, mainly from Southeast Europe. Evidence from three Y-chromosome lineages, I-M423, E-V13 and J-M241, make it possible to distinguish between Holocene Mesolithic forager and subsequent Neolithic range expansions from the eastern Sahara and the Near East, respectively. In particular, whereas the Balkan microsatellite variation associated to J-M241 correlates with the Neolithic period, those related to E-V13 and I-M423 Balkan Y chromosomes are consistent with a late Mesolithic time frame. In addition, the low frequency and variance associated to I-M423 and E-V13 in Anatolia and the Middle East, support an European Mesolithic origin of these two clades. Thus, these Balkan Mesolithic foragers with their own autochthonous genetic signatures, were destined to become the earliest to adopt farming, when it was subsequently introduced by a cadre of migrating farmers from the Near East. These initial local converted farmers became the principal agents spreading this economy using maritime leapfrog colonization strategies in the Adriatic and transmitting the Neolithic cultural package to other adjacent Mesolithic populations. The ensuing range expansions of E-V13 and I-M423 parallel in space and time the diffusion of Neolithic Impressed Ware, thereby supporting a case of cultural diffusion using genetic evidence.

33 comments:

I do not see anything new with these new samples from this article in regards to V13 and what Cruciani has said in his past papers. Using the samples the oldest haplotypes originate in Turkey. This is consistent with what he has published. Their is data to support this at this information thread in the M35 project.http://community.haplozone.net/index.php?topic=999.0

The Mesolithic date seems more plausible to me along with the non"African" origin. Besides the Mesolithic is a timeframe of a more heavier migratory phenomena.

Greek Colonists were too few in number and wouldve already entered lands already well populated and with degrees of civilization equal to their own. I'm not a big fan of this mass "March of the Greeks", seems rather very weak.

According to your other study with V-113, Sicilians are supposed to be 37% "Greek". Thats like nearly like 1.5 million of the 5 million Sicilians, are descended from Greeks, but the marker itself isnt of "Greek" origin regardless.

I think they use E3b and J2 for evidence of the Italo-Roman influence in North Western Europe, so they dont know and just play games with the markers. Would like to eventually see more concrete data and when all these people agree on something...

I do not see anything new with these new samples from this article in regards to V13 and what Cruciani has said in his past papers.

The paper has a new sample from Turkey in addition to the discovery of the paragroup in the two Albanians.

I am not sure what you mean by the statement that "the oldest haplotypes originate in Turkey." The oldest haplotypes are the ones close to the modal. The discovery that some Turkish haplotypes are a great deal away from the modal argues against Turkey being the origin rather than the opposite.

He found a star pattern in the western asia that dates to the 11ky ago. These new samples in the study have the oldest tmrca from Turkey. This is the area of Mr. V13 and not the location of the current populations founder expansion in the Balkans. This is from Cruciani himself in the above paper.

"On the other hand, when only E-V13chromosomes from western Asia are considered, the resultingnetwork (fig. 4B) does not show such a star-like shape,and a much earlier TMRCA of 11.5 ky (95% CI 6.8–17.0;fig. 1) is obtained."

I stand corrected he did not find a star like pattern in Western Asia. My point is that the oldest haplotypes are found in Western Asia. In his own words he says" a much earlier TMRCA of 11.5ky. These results open the possiblity of recognizing time windows for 1) population movements from E-M78 homeland in northeastern Africa to Eurasia and 2)population movements from western Asia into Europe and later within Europe.

The bottom line is that older haplotypes will probably been found in western Asia. This new supplemental data if you do a tmrca show the oldest haplotypes to come from Turkey. Use any mutation rate or fudge factor used by Z or whatever other method those Turkey haplotypes are the oldest. That is the point I am trying to clarify.

I don't want to be too insistent but, again, the distribution of E-V13 is only consistent with Neolithic events and not with any known Bronze Age process. In the Bronze Age the Balcans were not anymore exporting people and culture through inland routes like the Vardar-Morava-Danub axis. Early Greeks were probably exporting genes through the seas but certainly not across the mountains.

Anyhow, if E-V13 did not arrive to Europe via West Asia, how did it make it to the Balcans? We can only think of high-seas navigation but that was only beginning in the Neolithic period (as shown by the dates of earliest colonization of most Mediterranean islands, beginning in Cyprus and ending in Baleares) and is most unlikely to have existed in the Mesolithic age.

In relation to J2 clades that appear to be most diverse in the Balcans, as well as to E-V13... we have to understand that European Neolithic, even if it may ultimately be derived from West Asia has its core in the Balcans.

Balcanic Neolithic itself is fundamentally an expansion of the Sesklo culture of Thessaly (and not of Palestinian, Anatolian or Lebanese cultures - not directly in any case). And nearly all other European Neolithic cultures (certainly the two main ones: Danubian and Mediterranean, Lineal and Cardium Pottery cultures) are derived from that Balcanic Neolithic. Danubian was formed in Hungary as a very altered form of Starcevo, while Mediterranean Neolithic was in the Western Balcans (Adriatic coasts and Bosnia).

So I am not the least surprised that the main European "Neolithic" clades, including I-M423, appear to be rooted in the Balcans precisely. That is just what I would expect based on known prehistory.

This new supplemental data if you do a tmrca show the oldest haplotypes to come from Turkey.

No, it's about the same, and certainly not significantly older, than Lerna/Franchthi, Nea Nikomedeia, and Greek Macedonia. All these samples are within the s.d.'s of each other with the Konya Turkish sample (Table 3).

In many cases yes. Or not so different. Don't be so ethnocentric, please, it's clear that very imbalanced adventures like the conquest of America were not available then. Differences were much less noticeable, even if there were differences.

In those times you could see illiterate barbarians, like the Cimmerians, Germans or Arabs, invading major civilization areas. Instead the Aztecs invading Europe, not to say the Cherokees would be totally unimaginable. They would have needed many centuries of contact before such thing would be even remotely possible.

It does not deny Greek or proto-Greek or quasi-Greek ancestry in Italy. Most of Italy and specially the south was very much exposed to cultural influences from the Aegean (and possibly also demic fluxes): in the local Chalcolithic (Bronze in the Aegean region), later in Mycenaean and classical Greek periods, and let's not forget the Anatolian origin of Etruscans.

But I have no idea if any R1b1b2 was sighted?. It's not like haplogroups are like migrating birds or UFOS that can be "sighted" as they pass by. More like trails, often confuse, of past events that can be interpretated more or less acurately by good scouts. Rather than the abilities of a birdwatcher we need those of a Bushman hunter, able to tell exactly what happened by the river without having seen any of the animals involved at all.

Maju, whoever you are, don't forget I am a Tuscan from at least one thousand years but probably from 3 thousands or much more. My question was ironical. You know I think R1b1b2 was in a place, from at least the Younger Dryas: in Italy.The links with Greeks there are. One time I said in some forums before I was banned, that only two relatively small cities in the world have had the same harvest of geniuses: Athens and Florence, and don't forget that there were Pelasgians before "Greeks", who were linked to Etruscans. The third people of Geniuses, Ashkenazim, has probably a strong Etruscan and Pelasgian (Philistins) ancestry. I am 23% Ashkenazi and I have one milliom Tuscan ancestors in these last centuries.

I have always partecipate to any forums with my name, surname, YDna, MtDna, address, age, nationality and I had never used (and I am not going to use) a nickname. If you are so kind to manifest your data, I'll be able to say something also about you. Your picture remembers to me a person (from Etruscan phersu from Greek prosopon) I contempt (from Latin contemno) and I'll contempt for ever: "the great Julius didn't go bed only with all men of Rome, but also with all women". What I said on Athens and Florence is only an ascertainment. Find, please, only one town in the world of about 100,000 inhabitants which has generated so many geniuses.

Dear fellow sojourners on this great adventure. None of us knows all so much about this ancient past of our to be able to take each other down like this. One of the things I have appreciated about this blog for the past several weeks of reading is its relative, oh, neutrality of tone. It presents more than one side and the pithy abstracts are neutral and non personal in tone even when the author has an opinion he discloses. I like this forum that way. Can we keep it like that?

Related to the content of the topic, I am a novice at the groups specific to the genetic architecture being discussed. Could someone say just a little about them to kinda orient me? The nomenclature in this population genetics business confuses me.

In case it is not clear and I have used one of my "handles" I am John Charles Dyer. I am S29/U198 Y and T* with my few matches found in Spain, Mexico, Germany, Sicily, Syria, and the Bahamas.

I am a novice at the groups specific to the genetic architecture being discussed. Could someone say just a little about them to kinda orient me? The nomenclature in this population genetics business confuses me.

· R1b (most frequent in the West but also somewhat common in the Eastern Mediterranean - also ill studied branches in Uyghuristan and Sahelian Africa)· R1a (most frequent in the East and also in parts of Central Asia and Northern South Asia)· I (most common in the Balcans and Sweden - three different subclades with different geographical patterns)· J (most common in West Asia, two main subclades: J1 and J2 - though often found together, spread around along Mediterranean and other areas)· E (most common in Africa, E1b1b1 is the Mediterranean clade, strongest, as different subclades, in North Africa and Greece/Albania)

J and E are norally thought of as "Neolithic" by origin. I, related to J, may have also benefitted from Neolithic expansions that sprung from the Balcans and its exact origins are unclear. R1a is often claimed as Indo-European (Kurgan) trademark. R1b, at least the European subclade, is often claimed as Paleolithic (Magdalenian) remain (most concentrated among Basques, Gascons, Irish, Scotts, Welsh). Both R1 clades are obviously related and also more distantly with R2 (India mostly) and Q (some Sierians and most Native Americans).

Some people disagree with this scheme but is quite mainstream anyhow. Notice that mtDNA follows different patterns (probably even more complex).

@Maju, and speaking of ethno-centrism or ethno-bragging, what about the implicit ethno-bashing of your poorly informed comments about the conquest of America?

And when we saw all those towns and villages built in the water, and other great towns on dry land, and that straight and level causeway leading to Mexico, we were astounded. These great towns... and buildings rising from the water, all made of stone, seemed like an enchanted vision... Indeed some of our soldiers asked whether it was not all a dream... It was all so wonderful that I do not know how to describe this first glimpse of things never heard of, seen or dreamed of before...

Many thanks to Victor for having hammered the Hammer (also Jews had their Hammers!)John is a clever boy and I ask him, in these holidays, to read my posts on RootsWeb and on "dna-forums" (some thousands) and he'll be able to understand more on me, on Genetics, on Philosophy and on guilty conscience.Gioiello Tognoni del Badia, R1b1b2/S136+. K1a1b1 (Gioiello)

Dear Dyer, if you are the “Cornish the Red”, though your family is rooted in Britton lands, being your haplogroup more Germanic than Celt, and being the closest to you a Foster from England, I think that your twig has come from East (search for DYS607=13).

In any case, I did not mean to brag about anything. I just realize that the conquest of America was possible because (specially) a huge technological advantage by Old World peoples (not only Europeans at that time, more like all or most Eurasians). This was obviously a product of, specially, greater geographical mass, what created an accumulated differential of innovation along the milennia. No ethnic cause, merely geographical/historical reasons in my opinion.

This merely historical-geographical differential is also what allowed the Moroccan conquest of Mali and probably the African slave trade overall (as Africa was much more isolated than Eurasia, what hindered technocultural evolution, though not as much as America or Australia).

My point was and is in any case, that such huge techno-cultural differences (gunpowder and horses versus obsidian and copper) did not exist in most of the history and prehistory of Eurasia and specifically of West Eurasia, in which context I made that comment. Smaller differences may have existed though and, in general, the peoples towards the east, much better communicated, had that smaller advantage.

I am surprised that the young age of Sesklo has been overlooked in both King et al 2008 and this study. Not even a comment. The entire Cardial Ware argument is undermined by the relatively recent age of this group, which would appear to be associated with Iolkos rather than Sesklo, even under ZUF mutation rates.

Also, why did they ignore everything north of the Danube and east of the Vardar-Morava corridor? Bulgaria in particular would appear to be an oversight, since the variance of that population might have been a good clue.

am surprised that the young age of Sesklo has been overlooked in both King et al 2008 and this study. Not even a comment. The entire Cardial Ware argument is undermined by the relatively recent age of this group, which would appear to be associated with Iolkos rather than Sesklo, even under ZUF mutation rates.

Iolkos is not really far away from Sesklo. The whole Thessalian Neolithic (pre-Dimini) is generally percieved as "Sesklo culture".

Anyhow, from memory, Cardial appears early on in that area (the book I read called it "proto-Sesklo" in contrast to "pre-Sesklo", that would be the direct cultural ancestor of Sesklo and the Balcanic Neolithic) and would seem a somewhat different culture, nevertheless overalpping with Sesklo. Further explanations on this issue will be welcome from my side.

Also, why did they ignore everything north of the Danube and east of the Vardar-Morava corridor? Bulgaria in particular would appear to be an oversight, since the variance of that population might have been a good clue.

Good point. There's a tendency among some to believe that Danubian Neolithic is (in genetic terms) more authoctonous than Cardial one. But the archaeological evidence rather suggests the opposite if anything. While Cardial in most places clearly incorporates local Epipaleolithic tool-making styles, Danubian is much more homogeneous and does not appear to incorporate any pre-existent local technologies or cultural elements. Said that, I do suspect, that the very origins of Danubian (that imply major modifications of the Starcevo-Koros-Cris theme and appears precisely where the Neolithic wave should have come in contact with post-Magdalenian peoples) suggest an authoctonous or mixed element, something special that triggered that cultural change.

"What appears as 'Mesolithic' using the wrong mutation rate is actually Bronze Age, although with hefty confidence intervals".

In spite of the arguments against this comment presented here I see a strong possibility of it being correct.

E must have entered the Balkans from somewhere. Africa seems a good place to consider first up. We know from Egyptian records that the 'Sea People' were drifting around the Mediterranean during the Bronze age. We also know, from those same records, that these 'Sea people' were periodically allied with 'Libyans' (whoever the Egyptians considered them to be).

Couldn't the Y-chromosome have entered the Balkans at that time and then spread? As someone said elsewhere, "We know what sailors do when they enter any port".

Afterthought. Someone may be able to work out E-V13's most likely region of origin. What is the geographic spread of the E-M78 mutation? The E-V12, E-V13, E-V22 and E-V65 mutations presumably formed as regional variations after the M78 spread. You'll be able to deduce the most likely region of origin for V13 once you place each of these mutations into their separate regions of origin.

E-M78 is quite clearly original from the Nile (Cruciani 2007), yet E-V13 is rare in Africa and would seem to have a possible source in Palestine or SW Balcans (Albania, Greece). It's possible I guess that E-M78 expanded in the Mesolithic (Afroasiatic spread from Upper Egypt/Nubia) and that E-V13 is the local Balcanic derivate and that its presence in Palestine and other West Asian areas is best explained by back-migration from Europe. Yet (Cruciani 2004) the West Asian E-V13 appear mostly at the microsatellite central node (and rarely as derivatives), what rather would seem to sggest that it was in West Asia where E-V13 first appeared, having Greece and Albania as secondary spread nodes.

By Cruciani 2007 again, West Asia appears as much more diverse within E-V13 than Greece (or anywhere in Europe). Within Europe too Greece does not appear as particularly diverse either (more in places like Bulgaria or even Hungary). Yet diversty alone is not enough to mean origin (some of the most diverse areas for this clade in Europe are clearly colonization destinations, not sources, like Galicia). As someone said, using a modern example, the genetic diversity of Brazil is much higher than that of Portugal for any clade, yet this doesn't mean that Brazilians have colonized Portugal, we know it's the opposite case.

But still I see not clear the case for E-V13 to be Greek or Balcanic in origin. If anything it would seem that rather not. Nevertheless the Balcans were probably the main source of European E-V13.

E-V12* is found mainly in Upper Egypt (44%), E-V32 among Somalis and Oromo (both above 40%), E-V22 along the Nile, in Ethiopia (25%) and even Kenya, E-V65 mainly among Moroccan and Lybian "Arabs" (among Asian Arabs is much lower, 6% in Palestine as the highest figure).

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